Yanick Botilde(個体機能学講座 発生遺伝学研究室(濱田研究室))

演題 Genomic and proteomic analysis of Sall4 function:The gene product defective in Okihiro Syndrome
演者 Dr. Mathias Treier
(Developmental Biology Programme, EMBL,Heidelberg, Germany)

2009年 8月20日(木) 15:00-16:00

場所 2nd-Floor Seminar Room, Annex Building, Suita Campus



Sall4 is a mammalian Spalt transcription factor expressed by cells of the early embryo and germ cells, an expression pattern similar to that of both Oct4 and Sox2. Dr. Mathias Treier and his laboratory showed that the activity of Sall4 is cell-autonomously required for the development of the epiblast and primitive endoderm from the inner cell mass, and Sall4 is indispensable for maintenance of the self-renewing ES cell phenotype. In conclusion, Sall4 as an essential transcription factor required for the early development of inner cell mass-derived cell lineages.

The Okihiro syndrome(OS), characterized by a range of congenital disorders that affect eyes, ears, heart, kidney, limbs and other organs results have been proved to be result from a haploinsufficiency of Sall4 and in severe cases OS patients show kinds of phocomelia that resemble thalidomide limb phenotypes, and then found to carry Sall4 mutations. Sall4 deficency plays an important role in the OS.